On the meaning of the word 'epimutation'

被引:57
作者
Oey, H. [1 ]
Whitelaw, E. [1 ]
机构
[1] La Trobe Inst Mol Sci, Melbourne, Vic 3086, Australia
关键词
D O I
10.1016/j.tig.2014.08.005
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The word 'epimutation' is often used in a manner that can be misinterpreted. The strict definition of epimutation is a heritable change in gene activity that is not associated with a DNA mutation but rather with gain or loss of DNA methylation or other heritable modifications of chromatin. Unfortunately, there is a growing tendency in the cancer field to use the word in situations in which underlying DNA sequence changes have occurred.
引用
收藏
页码:519 / 520
页数:2
相关论文
共 12 条
[1]   Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect [J].
Buiting, K ;
Gross, S ;
Lich, C ;
Gillessen-Kaesbach, G ;
El-Maarri, O ;
Horsthemke, B .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (03) :571-577
[2]   Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer [J].
Hitchins, M. P. ;
Ward, R. L. .
JOURNAL OF MEDICAL GENETICS, 2009, 46 (12) :793-802
[3]   Brief report:: Inheritance of a cancer-associated MLH1 germ-line epimutation [J].
Hitchins, Megan P. ;
Wong, Justin J. L. ;
Suthers, Graerne ;
Suter, Catherine M. ;
Martin, David I. K. ;
Hawkins, Nicholas J. ;
Ward, Robyn L. .
NEW ENGLAND JOURNAL OF MEDICINE, 2007, 356 (07) :697-705
[4]   THE INHERITANCE OF EPIGENETIC DEFECTS [J].
HOLLIDAY, R .
SCIENCE, 1987, 238 (4824) :163-170
[5]  
Horsthemke B, 2006, CURR TOP MICROBIOL, V310, P45
[6]   Epigenetics and Oncology [J].
Mummaneni, Padmaja ;
Shord, Stacy S. .
PHARMACOTHERAPY, 2014, 34 (05) :495-505
[7]   Mutations in regulators of the epigenome and their connections to global chromatin patterns in cancer [J].
Plass, Christoph ;
Pfister, Stefan M. ;
Lindroth, Anders M. ;
Bogatyrova, Olga ;
Claus, Rainer ;
Lichter, Peter .
NATURE REVIEWS GENETICS, 2013, 14 (11) :765-780
[8]   Metastable epialleles in mammals [J].
Rakyan, VK ;
Blewitt, ME ;
Druker, R ;
Preis, JI ;
Whitelaw, E .
TRENDS IN GENETICS, 2002, 18 (07) :348-351
[9]   A KRAS-directed transcriptional silencing pathway that mediates the CpG island methylator phenotype [J].
Serra, Ryan W. ;
Fang, Minggang ;
Park, Sung Mi ;
Hutchinson, Lloyd ;
Green, Michael R. .
ELIFE, 2014, 3
[10]  
Speicher MR, 2010, VOGEL AND MOTULSKY'S HUMAN GENETICS, FOURTH EDITION, P1, DOI 10.1007/978-3-540-37654-5